ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827107950
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1781881
ClinVar RCV Id:
RCV002415298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Lys492Thr
CA366739454
NM_001322004.2:c.1475A>C